PB2510: CHARACTERISATION OF SICKLE CELL DISEASE PATIENTS: A PORTUGUESE REAL-WORLD STUDY (ASCEND)
Authors: Maria Manuel Deveza, Inês Nogueira Da Fonseca, Christopher James Ornelas Monteiro Saunders, Marinela Major, Ana Luisa Tome, Joana Martins, Tabita Maia, Celeste Bento, Daniel Brás
Journal: HemaSphere (2023)

Topic: 26. Sickle cell disease Background: Sickle cell disease (SCD) is an autosomal recessive blood disorder characterized by abnormal hemoglobin formation, leading to a more rigid and sickle-shaped red blood cells. Both acute and chronic complications of SCD are of extreme impact on the patients and their families. Hence, the occurrence of painful vaso-occlusive crises (VOC) is a hallmark of the disease. Still, other complications also arise from SCD that significantly impact patient’s health-related quality of life. Aims: Characterization of the demographic and clinical characteristics of SCD patients living in Portugal. Methods: Non-interventional cross-sectional study of adult patients with a confirmed diagnosis of SCD conducted in Portugal, from February to September 2022. Patients were ether recruited from participating hospitals, in a real-world setting (cohort 1), or from a patient association group (cohort 2). Primary data (clinical information) were only available for cohort 1, whereas secondary data (demographic information) were collected from both cohorts. Results: 211 SCD patients participated in this study. Most were female (58.8%), with a mean age of 34.0±11.2 years, ranging from 18 to 67 years, and normal weight (body mass index [BMI]=22.1±3.7 Kg/m2). 69.7% of patients lived in the Lisbon metropolitan area. They were mainly Portuguese (56.4%) and most of their parents originated from Angola (mother: 54.8%; father: 51.0%). Only 9.5% and 8.1% of the patients had a Portuguese-born mother or father, respectively. Patients were diagnosed at a mean age of 5.4±9.1 years and predominantly had the HbSS subtype (89.0%). Regarding acute complications of SCD, in the latter year, patients experienced a mean of at least 2.0±1.6 VOC episodes, of which 72.7% had one or more. The number of VOC increased with decreasing patient’s BMI (ρ=-0.142, p=0.045) and was age-independent. As for comorbidities, at least one was present in 89.5% of patients, hepatobiliary disorders (26.0%) and splenic sequestration (26.0%) being the most frequent. Patients aged ≥45 years (<45 years: median [IQR]=2.0 [1.0;3.0]; ≥45 years: 3.0 [2.0;4.0]; p=0.006) had more chronic comorbidities. The vast majority (85.5%) of patients received treatment and/or specific procedures for SCD: 73.5% were on hydroxyurea (HU) therapy and 44.5% received blood transfusions. Additionally, concomitant medication was prescribed to 97.0% of patients, namely antianemics (90.5%), antihypertensives (25.1%), non-steroidal anti-inflammatory drugs (24.5%), and anticoagulants/antithrombotics (19.5%). Most recent laboratory results revealed mean levels of hemoglobin, fetal hemoglobin, hematocrit, and platelets of 8.9±1.7 g/dL, 10.2±12.2%, 25.3±5.1%, and 347.4±151.4x109/L, respectively. Summary/Conclusion: The vast majority of SCD patients living in Portugal were under HU. There was a high incidence of documented acute and chronic complications, highlighting the clinical complexity these patients: nearly 90% had at least one comorbidity and 73% experienced pain episodes. An interesting data was the negative correlation between the number of VOC and the patient’s BMI, establishing the importance of weight control in SCD patients. This study provides the first real-world characterization of adult patients diagnosed with SCD living in Portugal. It contributes to a better understanding of the disease and provides important insights to improve patient management and care. Keywords: Sickle cell patient, Real world data, Epidemiology, Sickle cell disease